ClinVar Miner

List of variants in gene PUS1 reported as pathogenic for inherited sideroblastic anemia

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_025215.6(PUS1):c.883C>T (p.Arg295Trp) rs869025309 0.00001
NM_025215.6(PUS1):c.1122C>G (p.Tyr374Ter) rs779193823
NM_025215.6(PUS1):c.45G>A (p.Trp15Ter) rs895175332
NM_025215.6(PUS1):c.460C>T (p.Gln154Ter)
NM_025215.6(PUS1):c.658G>T (p.Glu220Ter) rs104894372

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